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Journal Article
Syx, Delfien, Ishikawa, Yoshihiro 
ORCID: 0000-0003-2013-0518, Gebauer, Jan ORCID: 0000-0002-3989-4748, Boudko, Sergei P., Guillemyn, Brecht ORCID: 0000-0001-7194-6651, Van Damme, Tim ORCID: 0000-0002-6424-4421, D'hondt, Sanne, Symoens, Sofie, Nampoothiri, Sheela ORCID: 0000-0002-9575-0722, Gould, Douglas B., Baumann, Ulrich, Bachinger, Hans Peter and Malfait, Fransiska
(2021).
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
PLoS Genet., 17 (2).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7404
Botta, Elena, Theil, Arjan F., Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E. C., Mendes, Marisa, I, Swagemakers, Sigrid M. A., Van der Spek, Peter J., Salomons, Gajja S., Hoeijmakers, Jan H. J., Yesodharan, Dhanya, Nampoothiri, Sheela ORCID: 0000-0002-9575-0722, Ogi, Tomoo, Lehmann, Alan R., Orioli, Donata and Vermeulen, Wim ORCID: 0000-0003-3616-734X
(2021).
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Hum. Mol. Genet., 30 (18).
S. 1711 - 1721.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083